A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664719



Internal ID15054685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61972200..61973878hg38UCSC Ensembl
Innerchr1:62437872..62439550hg19UCSC Ensembl
Innerchr1:62210460..62212138hg18UCSC Ensembl
Innerchr1:62149893..62151571hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
hg171679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517696
Supporting Variants
Samples
Known GenesINADL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664719
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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